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AB007. Genomic medicine: impact of rare disease research on medicine and health care

Most of rare diseases are genetic and the number of identified pathogenic genes is rapidly increasing since the introduction of next-generation sequencers. To date more than 4,500 Mendelian rare disorders with known molecular basis are listed in the OMIM database. In the past, it was believed by the...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Autor principal: Matsubara, Yoichi
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563468/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB007
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